211 related articles for article (PubMed ID: 32391085)
1. Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies.
Tan YQ; Tan YQ; Cheng DH
Mol Cytogenet; 2020; 13():15. PubMed ID: 32391085
[TBL] [Abstract][Full Text] [Related]
2. Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.
Aristidou C; Theodosiou A; Ketoni A; Bak M; Mehrjouy MM; Tommerup N; Sismani C
Mol Cytogenet; 2018; 11():34. PubMed ID: 29930709
[TBL] [Abstract][Full Text] [Related]
3. Long-read Oxford nanopore sequencing reveals a de novo case of complex chromosomal rearrangement involving chromosomes 2, 7, and 13.
Xing L; Shen Y; Wei X; Luo Y; Yang Y; Liu H; Liu H
Mol Genet Genomic Med; 2022 Sep; 10(9):e2011. PubMed ID: 35758276
[TBL] [Abstract][Full Text] [Related]
4. Breakpoints Identification of a Balanced Complex Chromosome Rearrangement Case: 46,XX, t(6;15;10;9)(q13;q15;p11.2;q34.3) ins(9;8)(q22.33;q21.1q21.3).
Li B; Li S; Luo F; Yang C; Xie J
Clin Lab; 2021 Apr; 67(4):. PubMed ID: 33865258
[TBL] [Abstract][Full Text] [Related]
5. Accurate Identification of Breakpoints in a Cryptic Reciprocal Translocation by Whole-Genome Sequencing.
Chen J; Lyu GZ; Jiang F; Zhang VW; Li DZ
Cytogenet Genome Res; 2022; 162(7):386-390. PubMed ID: 36893740
[TBL] [Abstract][Full Text] [Related]
6. Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype.
Sismani C; Kitsiou-Tzeli S; Ioannides M; Christodoulou C; Anastasiadou V; Stylianidou G; Papadopoulou E; Kanavakis E; Kosmaidou-Aravidou Z; Patsalis PC
Mol Cytogenet; 2008 Jul; 1():15. PubMed ID: 18644119
[TBL] [Abstract][Full Text] [Related]
7. Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping.
Zhang S; Pei Z; Lei C; Zhu S; Deng K; Zhou J; Yang J; Lu D; Sun X; Xu C; Xu C
J Med Genet; 2023 Mar; 60(3):274-284. PubMed ID: 35710108
[TBL] [Abstract][Full Text] [Related]
8. Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing.
Aristidou C; Koufaris C; Theodosiou A; Bak M; Mehrjouy MM; Behjati F; Tanteles G; Christophidou-Anastasiadou V; Tommerup N; Sismani C
PLoS One; 2017; 12(1):e0169935. PubMed ID: 28072833
[TBL] [Abstract][Full Text] [Related]
9. Inv dup del(10q): identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements.
Chen CP; Chen M; Su YN; Huang JP; Ma GC; Chang SP; Chern SR; Chen YT; Su JW; Lee CC; Town DD; Wang W
Taiwan J Obstet Gynecol; 2012 Jun; 51(2):245-52. PubMed ID: 22795102
[TBL] [Abstract][Full Text] [Related]
10. Clinical application of whole-genome low-coverage next-generation sequencing to detect and characterize balanced chromosomal translocations.
Liang D; Wang Y; Ji X; Hu H; Zhang J; Meng L; Lin Y; Ma D; Jiang T; Jiang H; Asan ; Song L; Guo J; Hu P; Xu Z
Clin Genet; 2017 Apr; 91(4):605-610. PubMed ID: 27491356
[TBL] [Abstract][Full Text] [Related]
11. Analysis of chromosomal structural variations in patients with recurrent spontaneous abortion using optical genome mapping.
Rao H; Zhang H; Zou Y; Ma P; Huang T; Yuan H; Zhou J; Lu W; Li Q; Huang S; Liu Y; Yang B
Front Genet; 2023; 14():1248755. PubMed ID: 37732322
[No Abstract] [Full Text] [Related]
12. 11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four-way balanced chromosomal translocation.
Zhang Q; Wang Y; Zhou J; Zhou R; Liu A; Meng L; Ji X; Hu P; Xu Z
Mol Genet Genomic Med; 2023 Oct; 11(10):e2248. PubMed ID: 37475652
[TBL] [Abstract][Full Text] [Related]
13. Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
Tabet AC; Verloes A; Pilorge M; Delaby E; Delorme R; Nygren G; Devillard F; Gérard M; Passemard S; Héron D; Siffroi JP; Jacquette A; Delahaye A; Perrin L; Dupont C; Aboura A; Bitoun P; Coleman M; Leboyer M; Gillberg C; Benzacken B; Betancur C
Mol Autism; 2015; 6():19. PubMed ID: 25844147
[TBL] [Abstract][Full Text] [Related]
14. Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family.
Peng Y; Yang S; Xi H; Hu J; Jia Z; Pang J; Liu J; Yu W; Tang C; Wang H
Mol Genet Genomic Med; 2021 Mar; 9(3):e1604. PubMed ID: 33471964
[TBL] [Abstract][Full Text] [Related]
15. Combination of trio-based whole exome sequencing and optical genome mapping reveals a cryptic balanced translocation that causes unbalanced chromosomal rearrangements in a family with multiple anomalies.
Xie M; Xue J; Zhang Y; Zhou Y; Yu Q; Li H; Li Q
Front Genet; 2023; 14():1248544. PubMed ID: 37745854
[No Abstract] [Full Text] [Related]
16. SVAtools for junction detection of genome-wide chromosomal rearrangements by mate-pair sequencing (MPseq).
Johnson SH; Smadbeck JB; Smoley SA; Gaitatzes A; Murphy SJ; Harris FR; Drucker TM; Zenka RM; Pitel BA; Rowsey RA; Hoppman NL; Aypar U; Sukov WR; Jenkins RB; Feldman AL; Kearney HM; Vasmatzis G
Cancer Genet; 2018 Feb; 221():1-18. PubMed ID: 29405991
[TBL] [Abstract][Full Text] [Related]
17. Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.
Schluth-Bolard C; Labalme A; Cordier MP; Till M; Nadeau G; Tevissen H; Lesca G; Boutry-Kryza N; Rossignol S; Rocas D; Dubruc E; Edery P; Sanlaville D
J Med Genet; 2013 Mar; 50(3):144-50. PubMed ID: 23315544
[TBL] [Abstract][Full Text] [Related]
18. Historical and Clinical Perspectives on Chromosomal Translocations.
Wilch ES; Morton CC
Adv Exp Med Biol; 2018; 1044():1-14. PubMed ID: 29956287
[TBL] [Abstract][Full Text] [Related]
19. Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability.
Nascimento CG; Prota JRM; Sgardioli IC; Spineli-Silva S; Campos NLV; Gil-da-Silva-Lopes VL; Vieira TP
Genes (Basel); 2023 Apr; 14(4):. PubMed ID: 37107643
[TBL] [Abstract][Full Text] [Related]
20. Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases.
Aristidou C; Theodosiou A; Bak M; Mehrjouy MM; Constantinou E; Alexandrou A; Papaevripidou I; Christophidou-Anastasiadou V; Skordis N; Kitsiou-Tzeli S; Tommerup N; Sismani C
PLoS One; 2018; 13(10):e0205298. PubMed ID: 30289920
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
